Fibronectin glomerulopathy: an unusual cause of adult-onset nephrotic syndrome.

We report the case of a 50-year-old woman with nephrotic-range proteinuria and lobular glomerulopathy on kidney biopsy. Homogenous glomerular deposits were non-immune reactive, but immunofluorescence microscopy for fibronectin was strongly positive. Ultrastructurally, the deposits were granular with focal fibril formation, leading to a diagnosis of fibronectin glomerulopathy. Mutational analysis revealed a heterozygous missense mutation in fibronectin (leading to the tyrosine at amino acid 973 being replaced by cysteine [Y973C]), confirming the diagnosis. This mutation affects Hep-III, one of the heparin-binding domains of fibronectin, and results in functional abnormalities.

Nadamuni M ，Piras R ，Mazbar S ，Higgins JP ，Kambham N ... -  《-》

[Diagnostic pathway of an unusual case of nephrotic syndrome: immunotactoid glomerulopathy].

Manganelli R ，Iannaccone S ，Ferbo U ，De Simone W ... -  《-》

A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.

Glomerulopathy with fibronectin deposits is a rare hereditary kidney disease characterized by the extensive deposition of fibronectin in glomeruli, particularly in mesangial regions and subendothelial zones. Prognostically, the disease is known as slowly progressive, leading to kidney failure in most cases. We recently diagnosed glomerulopathy with fibronectin deposits in a 24-year-old man in whom proteinuria was detected incidentally. Genetic analysis of the fibronectin 1 (FN1) gene showed heterozygosity for the Y973C mutation. The same mutation was found in his elder brother, who similarly experienced proteinuria. Both patients had normal kidney function but persistent proteinuria after 30 months and 11 years of follow-up, respectively.

Ertoy Baydar D ，Kutlugun AA ，Bresin E ，Piras R ... -  《-》

Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review.

Li C ，Wen YB ，Li H ，Li MX ，Li XW ，Li XM ... -  《-》

Fibronectin glomerulopathy.

Ishimoto I ，Sohara E ，Ito E ，Okado T ，Rai T ，Uchida S ... -  《-》